Absence of an association between lumican promoter variants and high myopia in the Korean population

Purpose: To determine the association of single nucleotide polymorphisms (SNPs) in the promoter region of the lumican (LUM) gene with high myopic Korean patients. Methods: Genomic DNA samples were obtained from 128 unrelated Korean patients with high myopia who had refractive errors ≤ -9.25 and axial lengths ≥ 26.5 mm in both eyes, and 235 control subjects. We investigated two promoter SNPs of the LUM gene. Results: For the rs3759222, the C/C genotype was less prevalent in the high myopia group compared to the control group (46.1% vs. 53.2%); however, there was no statistical significance (p = 0.068, OR = 0.754, 95% CI: 0.491-1.159). The "C" allele frequency in the high myopia group (68.0%) was slightly lower than the control group (72.6%), but this difference was not statistically significant (p = 0.061, OR = 0.810, 95% CI:0.582-1.126). For the rs3759223, the genotype frequencies of T/T, T/C, and C/C were 67.2%, 26.6%, and 6.2%, respectively, in the high myopia group and 64.7%, 30.6%, and 4.7 %, respectively, in the control group. The allele frequency of T was 80.5% in the high myopia group and 80.0% in the control group (p = 0.077, OR = 1.03, 95% CI: 0.703-1.508). There were no significant differences in the distribution of genotype and allele frequencies for the two promoter SNPs tested. Conclusions: The current study did not support an association between the promoter SNPs of the LUM gene with high myopia in the Korean population.